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Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report
BackgroundA plethora of cases are reported in the literature with iso- and ring-chromosome 18. However, co-occurrence of these two abnormalities in...
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Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports
BackgroundTrisomy 16 (T16) is thought to be the most frequent chromosome abnormality at conception, which is often associated with a high risk of...
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Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family
PurposeThis paper presents a report on two uncommon instances of cat eye syndrome in a Chinese family.
Case presentationThe proband, a 23-year-old...
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A missense variant in NUF2, a component of the kinetochore NDC80 complex, causes impaired chromosome segregation and aneuploidy associated with microcephaly and short stature
Mutations in proteins involved in cell division and chromosome segregation, such as microtubule-regulating, centrosomal and kinetochore proteins, are...
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Comparison of chromosomal status in reserved multiple displacement amplification products of embryos that resulted in miscarriages or live births: a blinded, nonselection case–control study
ObjectiveTo analyze chromosomal status in reserved multiple displacement amplification (MDA) products of embryos that result in miscarriages or live...
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A new sex-specific underlying mechanism for female schizophrenia: accelerated skewed X chromosome inactivation
BackgroundX chromosome inactivation (XCI) is the mechanism by which the X-linked gene dosage is adjusted between the sexes. Evidence shows that many...
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The Klinefelter Syndrome
The Klinefelter syndrome (KS) is a syndrome characterized by the presence of at least one extra X chromosome in the chromosome set. In 85% of cases,...
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18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency
Patients with chromosome 18q deletion syndrome generally experience hypogammaglobulinemia. Herein, we describe two patients with chromosome 18q...
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Trisomy silencing by XIST: translational prospects and challenges
XIST RNA is heavily studied for its role in fundamental epigenetics and X-chromosome inactivation; however, the translational potential of this...
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Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis
BackgroundWith the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome...
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Comparative Characteristics of Cytogenetic Abnormalities in Different Types of Myelodysplastic Syndromes
Abstract—Cytogenetic and molecular-cytogenetic rearrangements in the bone marrow cells in 251 patients with newly diagnosed myelodysplastic syndromes...
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Cytogenetic profile of 1791 adult acute myeloid leukemia in India
BackgroundCytogenetic analysis continues to have an important role in the management of acute myeloid leukemia (AML) because it is essential for...
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Muscular Dystrophy: Mutations in the Dystrophin Gene
Muscular dystrophy (MD) is a heterogeneous group of genetic disorders characterized by progressive muscle degeneration and weakness, leading to...
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Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study
Background1q21.1q21.2 microdeletions/microduplications are rare and incompletely penetrant genetic mutations, and only a few reports regarding their...
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Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population
BackgroundChromosome aberrations of 10p monosomy and 10q trisomy resulting from parental pericentric inversion 10 are extremely rare, and to date,...
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Cytogenetic Analysis of Patients with Hematological Malignancies
AbstractWith this study, we aim to summarize and assess the activity and performance of the Cytogenetic sector of the Laboratory of Medical...
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The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations
BackgroundAn isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletion of the long arm of chromosome 20, del(20)(q), are...
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Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome
The chromosomal region critical in Down syndrome has long been analyzed through genotype–phenotype correlation studies using data from many patients...
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Molecular Pathways and Animal Models of Tricuspid Atresia and Univentricular Heart
The process of valve formation is a complex process that involves intricate interplay between various pathways at precise times. Although we have not...
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STAC3 disorder: a common cause of congenital hypotonia in Southern African patients
STAC3 disorder, or Native American myopathy, is characterised by congenital myopathy, hypotonia, musculoskeletal and palatal anomalies, and...
